Reply to Ogino and Wilson

ανά Feldkötter, Markus, Schwarzer, Verena, Wirth, Radu, Wienker, Thomas F., Wirth, Brunhilde
Έκδοση 2002

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

ανά Feldkötter, Markus, Schwarzer, Verena, Wirth, Radu, Wienker, Thomas F., Wirth, Brunhilde
Έκδοση 2002

Evaluating information content of SNPs for sample-tagging in re-sequencing projects

ανά Hu, Hao, Liu, Xiang, Jin, Wenfei, Hilger Ropers, H, Wienker, Thomas F
Τόπος έκδοσης Sci Rep (2015)

Linkage analysis of alcohol dependence using MOD scores

ανά Strauch, Konstantin, Fürst, Robert, Rüschendorf, Franz, Windemuth, Christine, Dietter, Johannes, Flaquer, Antonia, Baur, Max P, Wienker, Thomas F
Έκδοση 2005

Investigation of a Family with Autosomal Dominant Dilated Cardiomyopathy Defines a Novel Locus on Chromosome 2q14-q22

ανά Jung, Martin, Poepping, Imke, Perrot, Andreas, Ellmer, Annette E., Wienker, Thomas F., Dietz, Rainer, Reis, André, Osterziel, Karl Josef
Έκδοση 1999

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

ανά Hu, Hao, Hübner, Christoph, Lukacs, Zoltan, Musante, Luciana, Gill, Esther, Wienker, Thomas F, Ropers, Hans-Hilger, Knierim, Ellen, Schuelke, Markus
Τόπος έκδοσης Eur J Hum Genet (2017)

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations

ανά Hu, Hao, Suckow, Vanessa, Musante, Luciana, Roggenkamp, Viola, Kraemer, Nadine, Ropers, Hans-Hilger, Hübner, Christoph, Wienker, Thomas F, Kaindl, Angela M
Έκδοση 2014

Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36

ανά Bosse, Kristin, Betz, Regina C., Lee, Young-Ae, Wienker, Thomas F., Reis, André, Kleen, Heidi, Propping, Peter, Cichon, Sven, Nöthen, Markus M.
Έκδοση 2000

Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13

ανά Lee, Young-Ae, Rüschendorf, Franz, Windemuth, Christine, Schmitt-Egenolf, Marcus, Stadelmann, Antje, Nürnberg, Gudrun, Ständer, Markward, Wienker, Thomas F., Reis, André, Traupe, Heiko
Έκδοση 2000

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

ανά Stöber, Gerald, Saar, Kathrin, Rüschendorf, Franz, Meyer, Jobst, Nürnberg, Gudrun, Jatzke, Susanne, Franzek, Ernst, Reis, André, Lesch, Klaus-Peter, Wienker, Thomas F., Beckmann, Helmut
Έκδοση 2000

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

ανά Davarniya, Behzad, Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Hosseini, Masoumeh, Maqsoud, Fariba, Farajollahi, Reza, Wienker, Thomas F., Ropers, H. Hilger, Najmabadi, Hossein
Τόπος έκδοσης PLoS One (2015)

VarWatch—A stand-alone software tool for variant matching

ανά Fredrich, Broder, Schmöhl, Marcus, Junge, Olaf, Gundlach, Sven, Ellinghaus, David, Pfeufer, Arne, Bettecken, Thomas, Siddiqui, Roman, Franke, Andre, Wienker, Thomas F., Hoeppner, Marc P., Krawczak, Michael
Τόπος έκδοσης PLoS One (2019)

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

ανά Grohmann, Katja, Wienker, Thomas F., Saar, Kathrin, Rudnik-Schöneborn, Sabine, Stoltenburg-Didinger, Gisela, Rossi, Rainer, Novelli, Giuseppe, Nürnberg, Gudrun, Pfeufer, Arne, Wirth, Brunhilde, Reis, André, Zerres, Klaus, Hübner, Christoph
Έκδοση 1999

Polymorphisms in the Genes Encoding Chemokine Receptor 5, Interleukin-10, and Monocyte Chemoattractant Protein 1 Contribute to Cytomegalovirus Reactivation and Disease after Alloge...

ανά Loeffler, Juergen, Steffens, Michael, Arlt, Eva-Maria, Toliat, Mohammad-Reza, Mezger, Markus, Suk, Anita, Wienker, Thomas F., Hebart, Holger, Nürnberg, Peter, Boeckh, Michael, Ljungman, Per, Trenschel, Rudolf, Einsele, Hermann
Έκδοση 2006

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

ανά Larti, Farzaneh, Kahrizi, Kimia, Musante, Luciana, Hu, Hao, Papari, Elahe, Fattahi, Zohreh, Bazazzadegan, Niloofar, Liu, Zhe, Banan, Mehdi, Garshasbi, Masoud, Wienker, Thomas F, Ropers, H Hilger, Galjart, Niels, Najmabadi, Hossein
Τόπος έκδοσης Eur J Hum Genet (2015)

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

ανά Larti, Farzaneh, Kahrizi, Kimia, Musante, Luciana, Hu, Hao, Papari, Elahe, Fattahi, Zohreh, Bazazzadegan, Niloofar, Liu, Zhe, Banan, Mehdi, Garshasbi, Masoud, Wienker, Thomas F, Hilger Ropers, H, Galjart, Niels, Najmabadi, Hossein
Τόπος έκδοσης Eur J Hum Genet (2015)

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

ανά Hartmann, Bianca, Wai, Timothy, Hu, Hao, MacVicar, Thomas, Musante, Luciana, Fischer-Zirnsak, Björn, Stenzel, Werner, Gräf, Ralph, van den Heuvel, Lambert, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Langer, Thomas, Kaindl, Angela M
Τόπος έκδοσης eLife (2016)

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

ανά Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V Reid, Gibbs, Richard A, Ropers, H Hilger
Έκδοση 2013

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia

ανά Stanke, Frauke, Becker, Tim, Kumar, Vinod, Hedtfeld, Silke, Becker, Christian, Cuppens, Harry, Tamm, Stephanie, Yarden, Jennifer, Laabs, Ulrike, Siebert, Benny, Fernandez, Luis, Macek, Milan, Radojkovic, Dragica, Ballmann, Manfred, Greipel, Joachim, Cassiman, Jean-Jacques, Wienker, Thomas F, Tümmler, Burkhard
Έκδοση 2010

The opioid peptides enkephalin and β-endorphin in alcohol dependence

ανά Racz, Ildiko, Schürmann, Britta, Karpushova, Anna, Reuter, Martin, Cichon, Sven, Montag, Christian, Fürst, Robert, Schütz, Christian, Franke, Petra E., Strohmaier, Jana, Wienker, Thomas F., Terenius, Lars, Ösby, Urban, Gunnar, Agneta, Maier, Wolfgang, Bilkei-Gorzó, Andras, Nöthen, Markus, Zimmer, Andreas
Έκδοση 2008